1/14. Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology.Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurologic symptomatology including ataxia, developmental delay, and spasticity. Herein we report severe marrow dysplasia in a patient with PNP deficiency. Drug-related marrow dysfunction was unlikely, and marrow virological studies were negative. A preleukemic myelodysplastic syndrome was also unlikely due to normal marrow CD34 cells, colony growth in clonogenic assay of marrow mononuclear cells, apoptosis rate, and Fas expression on marrow nucleated cells, as well as morphologic improvement of the marrow dysplasia after normal red blood cell transfusion. The patient's marrow stroma showed hypersensitivity to irradiation and undetectable PNP enzyme activity similar to peripheral lymphocytes. This is the first report of PNP deficiency associated with increased lymphocyte and marrow stromal sensitivity to irradiation. We conclude that marrows from patients with PNP deficiency might have hypersensitivity to irradiation and can develop dysplastic morphology, caused either directly or indirectly by the inherited enzymatic defect.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/14. Massive bone marrow crystal-storing histiocytosis in a patient with IgA-lambda multiple myeloma and extensive extramedullary disease. A case report.We report a case of multiple myeloma (MM) displaying an unusual course, with metastatic spread in uncommon sites (gastroduodenal and upper respiratory tract, breast, skin and liver) and with a fatal outcome. In our patient this plasma cell neoplasm was associated with a rare condition named crystal-storing histiocytosis (CSH), resulting from the storage in reactive histiocytes of crystalline immunoglobulin inclusions. These crystal-forming paraprotein components are secreted by the neoplastic plasma cells and give rise to the crystalline material of the histiocytes only after their ingestion and degradation by the same histiocytes. In this disorder crystal-storing cells may be present in various tissues (in our case mainly in bone marrow), often with functional alterations of the involved organs. In our opinion the association of this "atypical" MM with CSH is to be considered an uncommon event.- - - - - - - - - - ranking = 4.7789437790548keywords = neoplasm (Clic here for more details about this article) |
3/14. Magnetic resonance appearance of bone marrow edema associated with hydroxyapatite deposition disease without cortical erosion.The authors report the magnetic resonance (MR) appearance of bone marrow edema associated with hydroxyapatite deposition disease without cortical erosion. Hydroxyapatite deposition disease may have bone marrow edema on MR imaging without radiographic evidence of cortical erosion, mimicking the appearance of fracture, neoplasm, or infection. awareness of this association can prevent unnecessary additional imaging evaluation or biopsy.- - - - - - - - - - ranking = 4.7789437790548keywords = neoplasm (Clic here for more details about this article) |
4/14. 'hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart disease."hair-on-end" skull changes resembling thalassemia were rarely described in the 1950s and 1960s in children with cyanotic congenital heart diseases; these changes were described almost entirely in patients with tetralogy of fallot or D-transposition of the great arteries. As these lesions have become correctable, the osseous changes, never common, seem now only to exist in a small number of patients with uncorrectable complex cyanotic congenital heart disease who survive in a chronic hypoxic state. We present two cases: a case of marked marrow expansion in the skull of a 5-year-old boy with uncorrectable cyanotic heart disease studied by CT, and a second case of an 8-year-old with tetralogy of fallot and pulmonary atresia studied by plain skull radiographs. The true incidence of these findings is unknown.- - - - - - - - - - ranking = 5keywords = complex (Clic here for more details about this article) |
5/14. bone marrow necrosis. acute microcirculation failure in myelomonocytic leukemia.We saw bone marrow necrosis in a case of acute myelomonocytic leukemia. The diagnosis was made during the patinet's life, and the bone marrow microcirculation was studied immediately postmortem. histology and injection of the bone marrow arteries showed an acute microcirculation failure. The pathogenesis and possible relationship with soluble immune complexes was studied.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/14. rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia. Report of two cases.rhabdomyosarcoma manifested as a systemic disease is very rare and cases showing diffuse metastasis in the bone marrow are most unusual. Recently we encountered two cases of rhabdomyosarcoma with diffuse bone marrow metastasis which were clinically manifested as acute leukemia. The first patient was a 15-year-old female, who was admitted in 1982 with pancytopenia and many large primitive cells in bone marrow aspirates, hematological malignancy being diagnosed. Thereafter the bilateral breasts showed rapid swelling and a biopsy specimen revealed the histological features of typical alveolar rhabdomyosarcoma. The primary site of the neoplasm remained undetermined during the course. At autopsy, it was disclosed that the neoplasm originated from the left thigh and showed generalized metastasis. The second patient was a 38-year-old man, who was admitted in 1986 because of a nasal polyp obstructing the nasal cavity, and persistent nasal bleeding. Peripheral blood samples showed leukoerythroblastosis and thrombocytopenia, and large primitive cells were found in bone marrow aspirates, so that hematological malignancy was initially diagnosed. A biopsy specimen of the nasal polyp showed proliferation of large round cells and electron microscopy demonstrated the ultrastructural features of rhabdomyosarcoma.- - - - - - - - - - ranking = 9.5578875581095keywords = neoplasm (Clic here for more details about this article) |
7/14. Giant basal cell carcinoma with metastases and myelophthisic anemia.We report a 59-year-old, dark-complexioned black man with a giant basal cell carcinoma infiltrating virtually the entire scalp. Widespread metastatic bone marrow involvement produced a myelophthisic anemia. Basal cell carcinoma is rare in blacks, is rarely this large, and very rarely produces myelophthisic anemia from bone marrow metastases.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/14. Clumping of erythroblasts simulating a metastatic neoplasm.I describe an unusual case of artifactual clumping of erythroid cells in aspirated bone marrow particles, simulating a metastatic malignant small cell neoplasm. This was felt to be due to a combination of the technique of preparation of the smears, as well as a possible immunologic phenomenon secondary to the presence of membrane-bound antibody. The patient's peripheral red blood cells were shown to be coated with an IgG-specific antibody, possibly drug induced.- - - - - - - - - - ranking = 23.894718895274keywords = neoplasm (Clic here for more details about this article) |
9/14. Acute interstitial nephritis with bone marrow granulomas and uveitis.A case of interstitial nephritis with bone marrow granulomas and uveitis was presented. A 53-year-old woman was found to be uremic in the course of rheumatoid arthritis. The renal biopsy revealed acute interstitial nephritis with eosinophilic infiltration. She also had bone marrow granulomas and uveitis. These findings were compatible with those of the syndrome described by Dobrin et al. The etiology and the pathogenesis of this syndrome remain unknown. However, the elevation of the erythrocyte sedimentation rate, raised levels of serum immunoglobulins, presence of circulating immune complexes and decreased T-cell population observed in this patient suggest the involvement of immunological disorders.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/14. Acquired pure megakaryocytic aplasia in course of hepatitis in a patient with immune thrombocytopenic purpura.An unusual case of selective autoimmune myelopathy, a posthepatitic pure megakaryocytic aplasia, is reported. The disease manifested itself in a patient being treated for thrombocytopenic purpura caused by progressive administration of amitriptyline. The various clinical aspects of this unusual myelo-immunopathy seem to possess the same complexity and polymorphism of immune myelopathies.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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